| Variant ID | 13697 |
|---|---|
| Entrez Gene ID | 23081 |
| Gene | KDM4C (GeneCards) |
| Location | hg19 9:7706818-7706818
hg38 9:7706818-7706818 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.7706818 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0534 |
| CADD Raw score (version 1.3) | 0.12409 (Deleterious) |
| FATHMM raw prediction score | 0.12072 (Tolerated) |
| Deleterious probability by DeFine | 0.556 (Deleterious) |
| Entrez Gene ID | 23081 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KDM4C (GeneCards) |
| Number of variants in KDM4C in this database | 16 (view all the variants) |
| Full name | lysine demethylase 4C |
| Band | 9p24.1 |
| Other IDs | Vega: OTTHUMG00000187508 OMIM: 605469 HGNC: HGNC:17071 Ensembl: ENSG00000107077 |
| Other names | GASC1, JHDM3C, JMJD2C, TDRD14C |
| Summary | This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |